L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
Affected Genes: L2HGDH
Inheritance: Autosomal Recessive
Variant(canFam6):
chr8:26477064: G>A chr8:26477066: A>G
Breed: Shorty Bull*
Staffordshire Bull Terrier
General Information: L-2-Hydroxyglutaric Aciduria (L-2-HGA) in Staffordshire Bull Terriers is a serious genetic condition that affects the brain's metabolism, leading to the buildup of L-2-hydroxyglutaric acid in the body. This disorder typically presents in young dogs between four months and one year of age. Symptoms include a wobbly gait, muscle stiffness, behavioral changes, tremors, and seizures, which vary in severity and may progress over time. While some affected dogs may not show symptoms until later in life, early diagnosis is critical for managing the condition effectively and improving the quality of life.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: The genetic test for L-2-Hydroxyglutaric Aciduria (L-2-HGA) in Staffordshire Bull Terriers focuses on the L2HGDH gene to identify carriers of this autosomal recessive disease. To express the disease, dogs must inherit two copies of the mutated gene, one from each parent. Carriers, who have only one copy of the mutation, do not exhibit any symptoms but can pass the mutation to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected and a 50% chance of being a carrier. It is crucial to conduct reliable genetic testing before breeding to avoid the birth of affected puppies. Breeding of known carriers should be avoided to help eradicate this debilitating condition from the breed. Non-carriers will not pass on the mutated gene, ensuring that their offspring are not at risk for developing L-2-HGA.
References:
Abramson CJ, Platt SR, Jakobs C, Verhoeven NM, Dennis R, Garosi L, Shelton GD.L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers. J Vet Intern Med. 2003 17(4):551-556.
Short AD, Mellersh CS, Platt H, Carter SD, Timofte D, Lohi H, Ollier WE. Exonic mutations in the L2HGDH gene in Staffordshire bull terriers. Vet Rec. 2010 167(12):455-457.